Evidence map›Paper›PMID 38841627›Full record

ArticleNeurology. Genetics2024

Vincent Picher-Martel, Suma Babu, Anthony A Amato

Abstract read
In one paragraph

Article in Neurology. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. TDP-43: [GU]-ardian of the transcriptome.Molecular neurodegeneration · 2026
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Vincent Picher-MartelFrom the Department of Neurology (V.P.-M.), Massachusetts General Hospital/Harvard Medical School; Department of Neurology (V.P.-M.), MassGeneral Institute for Neurodegenerative Diseases (MIND); Department of Neurology (S.B.), Massachusetts General Hospital; Department of Neurology (A.A.A.), Brigham Women's Hospital, Harvard Medical School, Boston, MA.ORCID https://orcid.org/0000-0001-5620-6938
Suma BabuFrom the Department of Neurology (V.P.-M.), Massachusetts General Hospital/Harvard Medical School; Department of Neurology (V.P.-M.), MassGeneral Institute for Neurodegenerative Diseases (MIND); Department of Neurology (S.B.), Massachusetts General Hospital; Department of Neurology (A.A.A.), Brigham Women's Hospital, Harvard Medical School, Boston, MA.ORCID https://orcid.org/0000-0002-2648-7625
Anthony A AmatoFrom the Department of Neurology (V.P.-M.), Massachusetts General Hospital/Harvard Medical School; Department of Neurology (V.P.-M.), MassGeneral Institute for Neurodegenerative Diseases (MIND); Department of Neurology (S.B.), Massachusetts General Hospital; Department of Neurology (A.A.A.), Brigham Women's Hospital, Harvard Medical School, Boston, MA.ORCID https://orcid.org/0009-0006-3884-6644

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: Facial-onset sensory and motor neuronopathy (FOSMN) is a rare neuromuscular disorder characterized by progressive facial sensory impairment followed by motor dysfunction in a rostro-caudal distribution. FOSMN is clinically and pathologically associated with amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD). In contrast to ALS/FTD, the genetic profile of patients with FOSMN and the role of genetic testing are poorly defined. Methods: A 66-year-old woman was evaluated in our neuromuscular clinic for progressive facial pain, dysphagia, and dysarthria. Her diagnostic evaluation included brain and cervical MRI, nerve conduction studies and EMG, and an ALS/FTD next-generation sequencing panel. Results: The patient was diagnosed with FOSMN, and we identified a N390D variant in transactive response DNA-binding protein (TDP-43/ Discussion: FOSMN is pathologically and genetically associated with TDP-43. Therefore, ALS genetic testing that includes specifically

Identifiers

PMID38841627
PMCPMC11152643

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.